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Author [ Title] Year Filters: Keyword is Metalloendopeptidases [Clear All Filters]
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9, 26 (2017).
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med 8, 106 (2016).
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet 49, 1529-1538 (2017).